dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217407175T>G , CM000664.2:g.217407175T>G | GRCh38 |
| NC_000002.11:g.218271898T>G , CM000664.1:g.218271898T>G | GRCh37 |
| NC_000002.10:g.217980143T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474063.5:n.1458+18127A>C | ||
| ENST00000486365.5:n.2290+18127A>C | ||
| NR_026597.1:n.2290+18127A>C | ||
| NR_026597.2:n.2290+18127A>C |